Variant report

Variant	rs16871772
Chromosome Location	chr6:44307676-44307677
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr6:44307666-44308054	MCF10A-Er-Src	breast:	n/a	chr6:44307829-44307838
2	FOS	chr6:44307654-44308055	MCF10A-Er-Src	breast:	n/a	chr6:44307829-44307838
3	FOS	chr6:44307662-44308058	MCF10A-Er-Src	breast:	n/a	chr6:44307829-44307838

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:44299856..44303347-chr6:44304768..44307907,5	K562	blood:
2	chr6:44231961..44235036-chr6:44304302..44308085,4	MCF-7	breast:
3	chr6:44295218..44297676-chr6:44304954..44307920,2	K562	blood:
4	chr6:44247321..44249117-chr6:44305925..44308606,2	K562	blood:
5	chr6:44062217..44064228-chr6:44306668..44309028,2	K562	blood:
6	chr6:44306430..44308872-chr6:44310895..44313358,2	K562	blood:
7	chr6:44229471..44232092-chr6:44306709..44308642,2	K562	blood:
8	chr6:44233695..44236268-chr6:44306586..44308563,3	K562	blood:
9	chr6:44235419..44235959-chr6:44307130..44307772,2	MCF-7	breast:
10	chr6:44236483..44238229-chr6:44307349..44309648,2	K562	blood:
11	chr6:44222748..44225647-chr6:44303433..44307988,6	K562	blood:
12	chr6:44307648..44309372-chr6:44321890..44323452,2	K562	blood:

No data

Variant related genes	Relation type
SPATS1	TF binding region
ENSG00000178233	Chromatin interaction
ENSG00000157593	Chromatin interaction
ENSG00000146232	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10948134	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs11755211	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13214191	0.94[CEU][hapmap]
rs13220856	0.96[EUR][1000 genomes]
rs1571774	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1609726	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1971329	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2221224	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs2396239	0.88[EUR][1000 genomes]
rs4711780	0.89[CEU][hapmap]
rs4714782	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs4714783	0.89[CEU][hapmap];0.94[EUR][1000 genomes]
rs4714784	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs4714785	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs6911823	0.89[CEU][hapmap];0.94[EUR][1000 genomes]
rs6935417	0.95[EUR][1000 genomes]
rs7738562	0.96[EUR][1000 genomes]
rs7760813	0.98[EUR][1000 genomes]
rs7772720	0.89[CEU][hapmap];0.94[EUR][1000 genomes]
rs883193	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs883194	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9349282	0.94[EUR][1000 genomes]
rs9349283	0.82[CEU][hapmap]
rs9381313	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9381315	0.82[EUR][1000 genomes]
rs9472263	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs950230	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931987	chr6:43624625-44350167	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	201 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44302600-44309600	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr6:44305400-44310400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr6:44306200-44309200	Weak transcription	Brain Germinal Matrix	brain
4	chr6:44306400-44307800	Enhancers	Liver	Liver
5	chr6:44306800-44309200	Weak transcription	K562	blood
6	chr6:44307000-44308200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr6:44307000-44308400	Enhancers	HMEC	breast
8	chr6:44307200-44307800	Enhancers	Gastric	stomach
9	chr6:44307400-44307800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr6:44307400-44308200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr6:44307600-44307800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr6:44307600-44307800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr6:44307600-44308200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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